Phenotype #0000300514

Individual ID	00408388
Associated disease	-
Phenotype details	17m: normal fundi; electroretinogram: reduced responses under light-adapted conditions and no response under dark-adapted conditions; poor night vision; 2y6m: mild myopia (-3.0 D in both eyes) 22y: poor night vision and peripheral vision; bilateral visual acuity of 6/76, mild to moderate attenuation of arterioles, mild peripheral bone spicule-like pigmentation in the fundus, no optic disc atrophy; optical coherence tomography: severe thinning at the macula; no cataracts, keratoconus, or macular edema
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	rod-cone dystrophy
Age/Examination	22y (22 years)
Age/Diagnosis	-
Age/Onset	3m
Phenotype/Onset	nystagmus, poor pupillary constriction to strong light, retinal pallor
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-04-20 20:45:47 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD